To support individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment opportunities to enrich the lives of those with this rare genetic condition.
GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development. Although there are only a few published cases, patients so far identified have had intellectual disability, low muscle tone, limited speech, strabismus, and distinct physical characteristics, including tubular-shaped nose with broad nasal tip, short philtrum, and sparse hair.
Nearly all cases of this disorder occur through a de novo (i.e., new) mutation in the GATAD2B gene and are, in these cases, not inherited from either parent. However, affected siblings are possible and have been noted in rare cases when one of the parents has low-level mosaicism, meaning that a small percentage of the cells within that person have a different genetic makeup. Children of individuals with GAND would have a 50% chance of sharing the disorder.
If you know a patient with a GATAD2B mutation, or think you do, please contact us.
Jennifer is a middle school director and tutor for Classical Conversations, a leading program in home education. Prior to becoming a classical educator, Jennifer owned her own business from 2008-2014 working as a childbirth educator and doula. She served as Community Outreach Director for Dayton Area Labor Support in Dayton, Ohio, from 2009-2011. Jennifer's youngest two children were diagnosed in 2014 with a frameshift mutation of the GATAD2B gene due to a rare method of inheritance. Jennifer lives with her husband Chris, an aeronautical engineer for a defense contractor and historian for the Air Force Reserves, and their five children in Florida.
Colleen is an attorney practicing in the area of special education law. She represents parents on Long Island, New York, and assists them in obtaining the special education that their children deserve. Colleen is also an impartial hearing officer in New York City, where she decides cases between the Board of Education and parents of children with disabilities. Prior to opening her own law firm, she worked for seven years as a commercial litigator for a mid-sized firm in New York City. Colleen's oldest son has a GATAD2B deletion. She lives in New York with her husband Keith, a research strategist at Barclays Capital, their three children, and one assistance dog.
Mindy has been involved in philanthropy since 2008 and also currently serves on the Board of Directors as Vice President for the Walters Family Foundation. In addition, Mindy is a member of Exponent Philanthropy, which is dedicated to helping small foundations leverage their resources and amplify their impact. Mindy brings over 13 years of experience in direct marketing and is currently a Senior Client Marketing Manager at AGIA Affinity Services. Mindy graduated from Chapman University in 2003 with a bachelor's degree in Business Administration with a double emphasis in Marketing and Management. At the age of 18 months, Mindy's daughter was diagnosed with a nonsense variant in the GATAD2B gene. Mindy lives in California with her husband Riley and two children.